-
1
-
-
0033057414
-
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI
-
Alroy J, Haskins M & Birk DE (1999): Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp Eye Res 68: 523-530.
-
(1999)
Exp Eye Res
, vol.68
, pp. 523-530
-
-
Alroy, J.1
Haskins, M.2
Birk, D.E.3
-
4
-
-
0037196873
-
White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI
-
Barone R, Parano E, Trifiletti RR, Fiumara A & Pavone P (2002): White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI. J Neurol Sci 195: 171-175.
-
(2002)
J Neurol Sci
, vol.195
, pp. 171-175
-
-
Barone, R.1
Parano, E.2
Trifiletti, R.R.3
Fiumara, A.4
Pavone, P.5
-
5
-
-
0025084744
-
Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses
-
Collins ML, Traboulsi EI & Maumenee IH (1990): Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology 97: 1445-1449.
-
(1990)
Ophthalmology
, vol.97
, pp. 1445-1449
-
-
Collins, M.L.1
Traboulsi, E.I.2
Maumenee, I.H.3
-
6
-
-
33750627775
-
Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation
-
Doi: 10.1111/j.1600-0420.2006.00743.x
-
Fahnehjelm KT, Törnquist A-L, Malm G & Winiarski J (2006): Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation. Acta Ophthalmol Scand Doi: 10.1111/j.1600-0420.2006.00743.x.
-
(2006)
Acta Ophthalmol Scand
-
-
Fahnehjelm, K.T.1
Törnquist, A.-L.2
Malm, G.3
Winiarski, J.4
-
7
-
-
0013811925
-
Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses
-
Gills JP, Hobson R, Hanley WB & McKusick VA (1965): Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol 74: 596-603.
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 596-603
-
-
Gills, J.P.1
Hobson, R.2
Hanley, W.B.3
McKusick, V.A.4
-
8
-
-
0031926575
-
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
-
Guffon N, Souillet G, Maire I, Straczek J & Guibaud P (1998): Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 133: 119-125.
-
(1998)
J Pediatr
, vol.133
, pp. 119-125
-
-
Guffon, N.1
Souillet, G.2
Maire, I.3
Straczek, J.4
Guibaud, P.5
-
9
-
-
0031834971
-
Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up
-
Gullingsrud EO, Krivit W & Summers CG (1998): Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. Ophthalmology 105: 1099-1105.
-
(1998)
Ophthalmology
, vol.105
, pp. 1099-1105
-
-
Gullingsrud, E.O.1
Krivit, W.2
Summers, C.G.3
-
10
-
-
0019466750
-
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation
-
Hobbs JR, Hugh-Jones K, Barrett AJ et.al. (1981): Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation. Lancet 2: 709-712.
-
(1981)
Lancet
, vol.2
, pp. 709-712
-
-
Hobbs, J.R.1
Hugh-Jones, K.2
Barrett, A.J.3
-
11
-
-
0029634283
-
Allogeneic bone marrow transplantation for lysosomal storage diseases
-
The European Group for Bone Marrow Transplantation
-
Hoogerbrugge PM, Brouwer OF, Bordigoni P et.al. (1995): Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 345: 1398-1402.
-
(1995)
Lancet
, vol.345
, pp. 1398-1402
-
-
Hoogerbrugge, P.M.1
Brouwer, O.F.2
Bordigoni, P.3
-
12
-
-
0029982078
-
Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient
-
Huang Y, Bron AJ, Meek KM, Vellodi A & McDonald B (1996): Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient. Exp Eye Res 62: 377-387.
-
(1996)
Exp Eye Res
, vol.62
, pp. 377-387
-
-
Huang, Y.1
Bron, A.J.2
Meek, K.M.3
Vellodi, A.4
McDonald, B.5
-
14
-
-
0040920369
-
-
Johns Hopkins University [Accessed 16 June 2006.]
-
Johns Hopkins University (2006): Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607014. [Accessed 16 June 2006.]
-
(2006)
Online Mendelian Inheritance in Man
-
-
-
15
-
-
0037129038
-
Mucopolysaccharidoses. New therapeutic possibilities increase the need for early diagnosis
-
Malm G, Bondeson ML, von Döbeln U & Månsson JE (2002): [Mucopolysaccharidoses. New therapeutic possibilities increase the need for early diagnosis.] Läkartidningen 99: 1804-1809.
-
(2002)
Läkartidningen
, vol.99
, pp. 1804-1809
-
-
Malm, G.1
Bondeson, M.L.2
von Döbeln, U.3
Månsson, J.E.4
-
16
-
-
9044244531
-
Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models
-
Mollard RJ, Telegan P, Haskins M & Aguirre G (1996): Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models. Cornea 15: 25-34.
-
(1996)
Cornea
, vol.15
, pp. 25-34
-
-
Mollard, R.J.1
Telegan, P.2
Haskins, M.3
Aguirre, G.4
-
17
-
-
0027768324
-
Nine-point corneal thickness measurements and keratometry readings in normal corneas using ultrasound pachymetry
-
Rapuano CJ, Fishbaugh JA & Strike DJ (1993): Nine-point corneal thickness measurements and keratometry readings in normal corneas using ultrasound pachymetry. Insight 18: 16-22.
-
(1993)
Insight
, vol.18
, pp. 16-22
-
-
Rapuano, C.J.1
Fishbaugh, J.A.2
Strike, D.J.3
-
18
-
-
0014305961
-
Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease)
-
Rosen DA, Haust MD, Yamashita T & Bryans AM (1968): Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease). Can J Ophthalmol 3: 218-230.
-
(1968)
Can J Ophthalmol
, vol.3
, pp. 218-230
-
-
Rosen, D.A.1
Haust, M.D.2
Yamashita, T.3
Bryans, A.M.4
-
19
-
-
10744223978
-
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet G, Guffon N, Maire I et.al. (2003): Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31: 1105-1117.
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 1105-1117
-
-
Souillet, G.1
Guffon, N.2
Maire, I.3
-
20
-
-
0019195818
-
Glaucoma in a case of Hurler disease
-
Spellacy E, Bankes JL, Crow J, Dourmashkin R, Shah D & Watts RW (1980): Glaucoma in a case of Hurler disease. Br J Ophthalmol 64: 773-778.
-
(1980)
Br J Ophthalmol
, vol.64
, pp. 773-778
-
-
Spellacy, E.1
Bankes, J.L.2
Crow, J.3
Dourmashkin, R.4
Shah, D.5
Watts, R.W.6
-
21
-
-
0024309463
-
Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report
-
discussion 98
-
Summers CG, Purple RL, Krivit W, Pineda R, Copland GT, Ramsay NK, Kersey JH & Whitley CB (1989): Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report. Ophthalmology 96: 977-984 discussion 98.
-
(1989)
Ophthalmology
, vol.96
, pp. 977-984
-
-
Summers, C.G.1
Purple, R.L.2
Krivit, W.3
Pineda, R.4
Copland, G.T.5
Ramsay, N.K.6
Kersey, J.H.7
Whitley, C.B.8
-
22
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: Experience of two British centres
-
Vellodi A, Young EP, Cooper A, Wraith JE, Winchester B, Meaney C, Ramaswami U & Will A (1997): Bone marrow transplantation for mucopolysaccharidosis type I: Experience of two British centres. Arch Dis Child 76: 92-99.
-
(1997)
Arch Dis Child
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
Wraith, J.E.4
Winchester, B.5
Meaney, C.6
Ramaswami, U.7
Will, A.8
-
23
-
-
0027466761
-
Longterm outcome of Hurler syndrome following bone marrow transplantation
-
Whitley CB, Belani KG, Chang PN et.al. (1993): Longterm outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 46: 209-218.
-
(1993)
Am J Med Genet
, vol.46
, pp. 209-218
-
-
Whitley, C.B.1
Belani, K.G.2
Chang, P.N.3
-
24
-
-
17144399564
-
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
-
Wraith JE (2005): The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6: 489-506.
-
(2005)
Expert Opin Pharmacother
, vol.6
, pp. 489-506
-
-
Wraith, J.E.1
|